Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Seckel syndrome 2
go back to main search page
Accession:DOID:0070013 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)
Synonyms:exact_synonym: Bird-headed dwarfism 2;   Microcephalic primordial dwarfism 2;   SCKL2
 broad_synonym: Seckel-type dwarfism 2
 related_synonym: RBBP8-related disorders
 primary_id: MESH:C537534
 alt_id: OMIM:606744
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Seckel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 OMIM
ClinVar
PMID:11781686 PMID:18414213 PMID:24389050 PMID:25741868 PMID:28492532 NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Seckel syndrome 15
        Seckel syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Seckel syndrome 2 2
paths to the root